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Gene: Ufm1 MGI:1915140

Gene Summary

Name:

ubiquitin-fold modifier 1

Synonyms:

1810045K17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased total body fat amount	Ufm1^{em1(IMPC)Marc}	HET	Early adult	1.75×10^-13
increased circulating triglyceride level	Ufm1^{em1(IMPC)Marc}	HET	Early adult	5.94×10^-06
preweaning lethality, complete penetrance	Ufm1^{em1(IMPC)Marc}	HOM	Early adult	0.00
decreased cardiac muscle contractility	Ufm1^{em1(IMPC)Marc}	HET	Early adult	2.83×10^-06
dilated heart left ventricle	Ufm1^{em1(IMPC)Marc}	HET	Early adult	2.56×10^-05
decreased circulating total protein level	Ufm1^{em1(IMPC)Marc}	HET	Early adult	5.04×10^-05
decreased bone mineral density	Ufm1^{em1(IMPC)Marc}	HET	Early adult	2.56×10^-09
decreased bone mineral content	Ufm1^{em1(IMPC)Marc}	HET	Early adult	2.42×10^-09
decreased lean body mass	Ufm1^{em1(IMPC)Marc}	HET	Early adult	2.75×10^-09
decreased red blood cell distribution width	Ufm1^{em1(IMPC)Marc}	HET	Early adult	2.21×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ufm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ufm1 (1 diseases)
Human diseases predicted to be associated with Ufm1 (219 diseases)

The table below shows human diseases associated to Ufm1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukodystrophy, Hypomyelinating, 14			OMIM:617899

The table below shows human diseases predicted to be associated to Ufm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Increased ...	OMIM:610947
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Obesity, Hypertension, Childhood-onset truncal ob...	ORPHA:71529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina...	ORPHA:26793
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia	OMIM:245900
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypopro...	ORPHA:2494
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Hepatospl...	OMIM:612526
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Hypoprotein...	ORPHA:99828
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha...	OMIM:603552
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy	OMIM:246650
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, Thrombocytosis...	OMIM:226300
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Primary Intestinal Lymphangiectasia	Pericardial effusion, Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbumi...	ORPHA:90362
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Congestive heart failure, Leukocytosis, Dilat...	OMIM:615895
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia, Lipodystrophy, Lipoatrophy	OMIM:613877
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Failure to thrive, Hypertriglyceridemia	OMIM:614480
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Johanson-Blizzard Syndrome	Dextrocardia, Abnormal cardiac septum morphology, Failure to thrive, Hypoproteinemia, Anemia	ORPHA:2315
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolem...	ORPHA:90041
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin...	ORPHA:98855
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ...	OMIM:224120
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Congestive heart failure, Adipose tissue loss, Bone cyst, Hy...	ORPHA:528
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin...	ORPHA:261
Congenital Disorder Of Glycosylation, Type Ij	Flexion contracture, Hypoproteinemia	OMIM:608093
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Epistaxis, Peric...	ORPHA:167
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia	OMIM:260450
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Telangiectasia of the skin, L...	OMIM:615381
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level	OMIM:615238
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin...	ORPHA:98863
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris	OMIM:614025
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Ventricular septal defect, Splenomegaly, Hypocalcemia, Hypoproteinemia	OMIM:235255
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu...	ORPHA:435660
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris	ORPHA:140905
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility	OMIM:619013
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypop...	ORPHA:1655
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	ORPHA:280365
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,...	ORPHA:363400
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca...	OMIM:616222
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin...	ORPHA:231226
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, S...	ORPHA:2348
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion contrac...	OMIM:617591
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevat...	OMIM:613327
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Congestive heart...	ORPHA:79083
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal cardiovascular system physiology, Unicameral bone cyst, Generalize...	ORPHA:79086
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Loss of glutea...	ORPHA:435651
Liver Disease, Severe Congenital	Cardiomegaly, Abnormal left ventricular function, Leukopenia, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo...	ORPHA:29073
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Bone-marrow f...	OMIM:278000
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hyperlipidemia, Osteoporosis, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:369
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Akt2-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Hypertriglyceridemia, Lipodystrophy	ORPHA:79085
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Abnormal heart morphology	OMIM:182290
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, ...	OMIM:615980
Werner Syndrome	Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density	OMIM:277700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly	OMIM:604273
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc...	ORPHA:470
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia	ORPHA:71
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Microcytic anemia, Abnormal cardiovascu...	ORPHA:168569
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Hyperlipidemia, Reduced bone mine...	ORPHA:1414
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:261476
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase con...	OMIM:232400
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Congestive heart failure, Dilated ...	OMIM:203800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo...	ORPHA:79240
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula...	ORPHA:567548
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Obesity, Gout, In...	ORPHA:412
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Obesity, Orthostatic h...	ORPHA:66628
Fanconi-Bickel Syndrome	Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to thrive	ORPHA:2088
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Failure to thrive, Reticulocytosis, Anisocytosis, Card...	OMIM:618278
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Obesity, Orthostatic h...	ORPHA:179494
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Congestiv...	ORPHA:363618
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:608594
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Obesity, Cardiomyopathy, Abnormal granulocyte morphology, Abnormal circulat...	ORPHA:98907
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipidemia, Osteoporosis, G...	ORPHA:79259
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Obesity, Hypercholesterolemia	ORPHA:819
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve m...	ORPHA:77293
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop...	ORPHA:31150
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Obesity	ORPHA:329249
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Cachexia, Bone-marrow foam cells, Hyper...	ORPHA:275761
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Mitral valve calcification, Tricuspid regurgitation, Hypertriglyceridemia, Elevated h...	OMIM:619127
Seckel Syndrome 10	Ventricular hypertrophy, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure,...	OMIM:617253
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Widened atrophic scar, Pericar...	ORPHA:536532
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Abnormal heart morpho...	ORPHA:369837
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Pierson Syndrome	Hypertension, Hypoproteinemia, Retinal hemorrhage	OMIM:609049
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:256040
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia	OMIM:613027
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Pulmonary embolism, Hyperlipidemia, Hepatosplenomegaly, Increased circulati...	ORPHA:444490
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos...	OMIM:248370
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc...	OMIM:618183
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Telangiectasia of t...	ORPHA:79474
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Ventricular septal defect, ...	OMIM:619418
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Osteoporosis, Pathologic frac...	OMIM:307030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Hyperlipidemia, Obesity, Mitra...	ORPHA:254346
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Reduced bone mineral de...	ORPHA:324
Microtriplication 11Q24.1	Hyperlipidemia, Limitation of joint mobility, Obesity	ORPHA:289522
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy...	OMIM:606721
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Obesity, Cardiomyopathy, Abnormal circulating cre...	ORPHA:98908
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Familial Multiple Lipomatosis	Hyperlipidemia, Lipodystrophy, Abnormal tricuspid valve morphology, Increased adipose tissue	ORPHA:199276
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Transient ischemic attack, Small for gestational age, Congestive heart failure, Hype...	ORPHA:1830
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Osteolysis, Generalized lipodystrophy, Osteolytic defects of the dist...	ORPHA:90154
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia...	ORPHA:565612
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J...	ORPHA:35909
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elevated circulati...	ORPHA:228308
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hypertension, Xanthelasma, Hyperuricemia, Neutr...	OMIM:232220
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia, Failure to thrive	ORPHA:2089
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects...	ORPHA:90153
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly...	ORPHA:3455
Glycogen Storage Disease Ia	Hyperlipidemia, Osteoporosis, Gout, Hypertension, Xanthelasma, Hyperuricemia	OMIM:232200
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe...	ORPHA:91
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Alagille Syndrome 1	Hypertriglyceridemia, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Hyper...	OMIM:118450
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy...	OMIM:264090
Parenteral Nutrition-Associated Cholestasis	Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circulati...	ORPHA:567983
Glycogen Storage Disease Ic	Cyclic neutropenia, Spider hemangioma, Hyperlipidemia, Gout, Hypertension, Xanthelasma, Hyperuric...	OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism	ORPHA:567546
Alström Syndrome	Hypertriglyceridemia, Dorsocervical fat pad, Portal hypertension, Congestive heart failure, Hyper...	ORPHA:64
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Heart murmur, Abnor...	ORPHA:391665
Woodhouse-Sakati Syndrome	Osteopenia, Abnormal T-wave, Hyperlipidemia	ORPHA:3464
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hyperlipidemia	OMIM:241080
Leukodystrophy, Hypomyelinating, 14		OMIM:617899

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ufm1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ufm1.

No publications found that use IMPC mice or data for Ufm1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ufm1^{em1(IMPC)Marc}	Deletion	Mice
Ufm1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ufm1^{tm46149(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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